Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: CRISPLD2: S105G

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: CRISPLD2: S105G

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CRISPLD2: S105G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: CRISPLD2: S105G

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: CRISPLD2: 313A>G; S105G; rs12051468

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CRISPLD2: 313A>G; S105G; rs12051468

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology

Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L

Publication Date: 2020

Variant appearance in text: rs12051468

PubMed Link: 33195260

Variant Present in the following documents:

• Main text
• fcell-08-592271.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs12051468

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CRISPLD2: S105G

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: CRISPLD2: 313A>G; Ser105Gly

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 9

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma.

Chest

Kachroo, Priyadarshini P; Hecker, Julian J; Chawes, Bo L BL; Ahluwalia, Tarunveer S TS; Cho, Michael H MH; Qiao, Dandi D; Kelly, Rachel S RS; Chu, Su H SH; Virkud, Yamini V YV; Huang, Mengna M; Barnes, Kathleen C KC; Burchard, Esteban G EG; Eng, Celeste C; Hu, Donglei D; Celedón, Juan C JC; Daya, Michelle M; Levin, Albert M AM; Gui, Hongsheng H; Williams, L Keoki LK; Forno, Erick E; Mak, Angel C Y ACY; Avila, Lydiana L; Soto-Quiros, Manuel E ME; Cloutier, Michelle M MM; Acosta-Pérez, Edna E; Canino, Glorisa G; Bønnelykke, Klaus K; Bisgaard, Hans H; Raby, Benjamin A BA; Lange, Christoph C; Weiss, Scott T ST; Lasky-Su, Jessica A JA; ,

Publication Date: 2019-12

Variant appearance in text: rs12051468

PubMed Link: 31557467

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs12051468

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: CRISPLD2: S105G

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CRISPLD2: 313A>G; Ser105Gly; rs12051468

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1
• srep30457-s2.xls, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs12051468

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CRISPLD2: S105G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1
• srep09124-s2.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14

View BVdb publication page

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Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

Human Molecular Genetics

Milne, Roger L RL; Burwinkel, Barbara B; Michailidou, Kyriaki K; Arias-Perez, Jose-Ignacio JI; Zamora, M Pilar MP; Menéndez-Rodríguez, Primitiva P; Hardisson, David D; Mendiola, Marta M; González-Neira, Anna A; Pita, Guillermo G; Alonso, M Rosario MR; Dennis, Joe J; Wang, Qin Q; Bolla, Manjeet K MK; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Schoemaker, Minouk M; Ko, Yon-Dschun YD; Brauch, Hiltrud H; Hamann, Ute U; , ; Andrulis, Irene L IL; Knight, Julia A JA; Glendon, Gord G; Tchatchou, Sandrine S; , ; , ; Matsuo, Keitaro K; Ito, Hidemi H; Iwata, Hiroji H; Tajima, Kazuo K; Li, Jingmei J; Brand, Judith S JS; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; Lambrechts, Diether D; Peuteman, Gilian G; Christiaens, Marie-Rose MR; Smeets, Ann A; Jakubowska, Anna A; Lubinski, Jan J; Jaworska-Bieniek, Katarzyna K; Durda, Katazyna K; Hartman, Mikael M; Hui, Miao M; Yen Lim, Wei W; Wan Chan, Ching C; Marme, Federick F; Yang, Rongxi R; Bugert, Peter P; Lindblom, Annika A; Margolin, Sara S; García-Closas, Montserrat M; Chanock, Stephen J SJ; Lissowska, Jolanta J; Figueroa, Jonine D JD; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Flyger, Henrik H; Hooning, Maartje J MJ; Kriege, Mieke M; van den Ouweland, Ans M W AM; Koppert, Linetta B LB; Fletcher, Olivia O; Johnson, Nichola N; dos-Santos-Silva, Isabel I; Peto, Julian J; Zheng, Wei W; Deming-Halverson, Sandra S; Shrubsole, Martha J MJ; Long, Jirong J; Chang-Claude, Jenny J; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Cox, Angela A; Cross, Simon S SS; Reed, Malcolm W R MW; Schmidt, Marjanka K MK; Broeks, Annegien A; Cornelissen, Sten S; Braaf, Linde L; Kang, Daehee D; Choi, Ji-Yeob JY; Park, Sue K SK; Noh, Dong-Young DY; Simard, Jacques J; Dumont, Martine M; Goldberg, Mark S MS; Labrèche, France F; Fasching, Peter A PA; Hein, Alexander A; Ekici, Arif B AB; Beckmann, Matthias W MW; Radice, Paolo P; Peterlongo, Paolo P; Azzollini, Jacopo J; Barile, Monica M; Sawyer, Elinor E; Tomlinson, Ian I; Kerin, Michael M; Miller, Nicola N; Hopper, John L JL; Schmidt, Daniel F DF; Makalic, Enes E; Southey, Melissa C MC; Hwang Teo, Soo S; Har Yip, Cheng C; Sivanandan, Kavitta K; Tay, Wan-Ting WT; Shen, Chen-Yang CY; Hsiung, Chia-Ni CN; Yu, Jyh-Cherng JC; Hou, Ming-Feng MF; Guénel, Pascal P; Truong, Therese T; Sanchez, Marie M; Mulot, Claire C; Blot, William W; Cai, Qiuyin Q; Nevanlinna, Heli H; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Wu, Anna H AH; Tseng, Chiu-Chen CC; Van Den Berg, David D; Stram, Daniel O DO; Bogdanova, Natalia N; Dörk, Thilo T; Muir, Kenneth K; Lophatananon, Artitaya A; Stewart-Brown, Sarah S; Siriwanarangsan, Pornthep P; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Shu, Xiao-Ou XO; Lu, Wei W; Gao, Yu-Tang YT; Zhang, Ben B; Couch, Fergus J FJ; Toland, Amanda E AE; , ; Yannoukakos, Drakoulis D; Sangrajrang, Suleeporn S; McKay, James J; Wang, Xianshu X; Olson, Janet E JE; Vachon, Celine C; Purrington, Kristen K; Severi, Gianluca G; Baglietto, Laura L; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Czene, Kamila K; Eriksson, Mikael M; Humphreys, Keith K; Darabi, Hatef H; Ahmed, Shahana S; Shah, Mitul M; Pharoah, Paul D P PD; Hall, Per P; Giles, Graham G GG; Benítez, Javier J; Dunning, Alison M AM; Chenevix-Trench, Georgia G; Easton, Douglas F DF

Publication Date: 2014-11-15

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 24943594

Variant Present in the following documents:

• Main text
• ddu311.pdf

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs12051468

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Chiquet, Brett T BT; Henry, Robin R; Burt, Amber A; Mulliken, John B JB; Stal, Samuel S; Blanton, Susan H SH; Hecht, Jacqueline T JT

Publication Date: 2011-01

Variant appearance in text: rs12051468

PubMed Link: 21254358

Variant Present in the following documents:

• Main text

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Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Carter, Tonia C TC; Molloy, Anne M AM; Pangilinan, Faith F; Troendle, James F JF; Kirke, Peadar N PN; Conley, Mary R MR; Orr, David J A DJ; Earley, Michael M; McKiernan, Eamon E; Lynn, Ena C EC; Doyle, Anne A; Scott, John M JM; Brody, Lawrence C LC; Mills, James L JL

Publication Date: 2010-02

Variant appearance in text: CRISPLD2: S105G; rs12051468

PubMed Link: 19937600

Variant Present in the following documents:

• Main text

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CRISPLD2: a novel NSCLP candidate gene.

Human Molecular Genetics

Chiquet, Brett T BT; Lidral, Andrew C AC; Stal, Samuel S; Mulliken, John B JB; Moreno, Lina M LM; Arcos-Burgos, Mauricio M; Arco-Burgos, Mauricio M; Valencia-Ramirez, Consuelo C; Blanton, Susan H SH; Hecht, Jacqueline T JT

Publication Date: 2007-09-15

Variant appearance in text: rs12051468

PubMed Link: 17616516

Variant Present in the following documents:

• Main text

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